Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases

Jeong Tae Kim, Yun Jin Lee, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim

Research output: Contribution to journalArticle

13 Citations (Scopus)


Aim: Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non-specific and non-categorized mitochondrial disease. Methods: We retrospectively reviewed the clinical and laboratory features of 108 paediatrics patients with non-specific and non-categorized mitochondrial diseases who showed defects in MRC activity, confirmed by spectrophotometric biochemical enzyme assay of their muscles. Results: Neuromuscular involvement was noted in all patients, with developmental delay and seizure accounting for 92.6% and 77.8% of total patients respectively. Various extraneurological symptoms were observed. Most patients exhibited MRC I defect, accounting for 100 (92.6%) patients. The most common brain magnetic resonance imaging (MRI) finding was diffuse cerebral atrophy. However, in 23.1% of patients, no notable changes were visible on MRI. Conclusions: Mitochondrial respiratory chain complex I defect was the most common finding in this study. Though neuromuscular symptoms predominated, with presence of numerous extraneurological findings, we could not find any novel symptoms that might be unique to this category of mitochondrial disease. But, comparatively, more patients presented with unremarkable birth histories and normal brain MRI findings.

Original languageEnglish
Pages (from-to)1825-1829
Number of pages5
JournalActa Paediatrica, International Journal of Paediatrics
Issue number11
Publication statusPublished - 2009 Nov 4


All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this